Canonical Allele Identifier: CA16040897

Gene: HGD

Linked Data

• ClinVar Variation Id: 371563
• ClinVar RCV Id: RCV000411822
• dbSNP Id: rs1057517370
• COSMIC: COSM6096070
• MyVariant Identifiers: chr3:g.120389380C>T (hg19) ; chr3:g.120670533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670533C>T , CM000665.2:g.120670533C>T	GRCh38
NC_000003.11:g.120389380C>T , CM000665.1:g.120389380C>T	GRCh37
NC_000003.10:g.121872070C>T	NCBI36
NG_011957.1:g.16949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.177-1G>A MANE Select	ENSP00000283871.5:n.177-1G>A
ENST00000283871.9:c.177-1G>A	ENSP00000283871.5:n.177-1G>A
ENST00000466528.5:n.203-1G>A
ENST00000476082.2:c.54-1G>A	ENSP00000419560.2:n.54-1G>A
ENST00000485313.5:n.285-1G>A
ENST00000488183.5:n.435-1G>A
NM_000187.3:c.177-1G>A	NP_000178.2:n.177-1G>A
XM_005247412.1:c.177-1G>A	XP_005247469.1:n.177-1G>A
XM_005247413.1:c.177-1G>A	XP_005247470.1:n.177-1G>A
XM_005247414.3:c.177-1G>A	XP_005247471.1:n.177-1G>A
XM_011512746.1:c.177-1G>A	XP_011511048.1:n.177-1G>A
XM_005247412.2:c.177-1G>A	XP_005247469.1:n.177-1G>A
XM_005247413.2:c.177-1G>A	XP_005247470.1:n.177-1G>A
XM_005247414.5:c.177-1G>A	XP_005247471.1:n.177-1G>A
XM_011512746.2:c.177-1G>A	XP_011511048.1:n.177-1G>A
XM_017006277.2:c.-247-1G>A	XP_016861766.1:n.-247-1G>A
NM_000187.4:c.177-1G>A MANE Select	NP_000178.2:n.177-1G>A